Sitosterolemia 2
Disease ID: disease_node_20478
Connections displayed (default: 10).
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| Dbxref | MIM:618666 |
|---|---|
| Subclassof | DOID_5295, DOID_0050737 |
| Data Source | DOID |
| Doid Label | sitosterolemia 2 |
| Doid Description | An intestinal disease that is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20478 |
| Doid Id | DOID_0060983 |
| Label | Sitosterolemia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Intestinal Diseases(ID:disease_node_4331) (Disease)